The MalaCard for "hernia" has been retired.
Searching MalaCards for entries containing "hernia"

894 hits were found for 'hernia'

# Family MCID Name MIFTS Score
1
c CNG015 Congenital Diaphragmatic Hernia 55 6.585
2
HTS001 Hiatus Hernia 42 5.045
3
P DPH016 Diaphragmatic Hernia 3 36 4.782
4
DNN002 Donnai-Barrow Syndrome 39 3.757
5
MCR062 Microcephaly, Hiatal Hernia and Nephrotic Syndrome 24 3.378
6
FRY002 Fryns Syndrome 49 3.014
7
ACR038 Acromegaloid Features, Overgrowth, Cleft Palate and Hernia 6 2.894
8
DND012 Dandy-Walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia 2 2.894
9
ABD010 Abdominal Wall Defect 29 2.532
10
DPH011 Diaphragmatic Hernia Upper Limb Defects 10 2.463
11
P SHR029 Short Syndrome 49 2.436
12
LMB010 Lambert Syndrome 27 2.359
13
ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 2 2.359
14
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 1 2.359
15
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 0 2.359
16
MCR090 Microspherophakia with Hernia 0 2.359
17
HRN002 Hernia of Ovary and Fallopian Tube 5 2.343
18
MRF012 Marfanoid Habitus - Inguinal Hernia - Advanced Bone Age 4 2.343
19
c HRN009 Hernia, Congenital Diaphragmatic 1 3 2.343
20
c HRN010 Hernia, Congenital Diaphragmatic 2 3 2.343
21
GRS006 Gershoni-Baruch Syndrome 2 2.343
22
SPG003 Spigelian Hernia-Cryptorchidism Syndrome 2 2.343
23
c DH1001 Dih1-Related Congenital Diaphragmatic Hernia 1 2.343
24
c PRS049 Persistent Mullerian Duct Syndrome 38 1.737
25
DSP001 Displacement of Cardia Through Esophageal Hiatus 6 1.706
26
PGD001 Pagod Syndrome 20 1.677
27
GST056 Gastrocutaneous Syndrome 15 1.677
28
SHP002 Shprintzen-Goldberg Syndrome 28 1.657
29
APL011 Aplasia Cutis Myopia 16 1.657
30
MGR005 Megarbane Syndrome 3 1.657
31
SLB001 Saal Bulas Syndrome 2 1.657
32
P ESP024 Esophagitis 60 0.278
33
c XP2001 Xp22.3 Microdeletion Syndrome 21 0.186
34
c INT070 Intestinal Obstruction 54 0.176
35
CMB016 Combined Oxidative Phosphorylation Deficiency 5 26 0.176
36
LMB055 Limb Transversal Defect - Cardiac Anomaly 21 0.176
37
HYD005 Hydrocele 46 0.165
38
GRB002 Gerbode Defect 16 0.158
39
IDP042 Idiopathic Recurrent Stupor 15 0.158
40
CMB019 Combined Oxidative Phosphorylation Deficiency 8 30 0.150
41
c CRN222 Corneal Endothelial Dystrophy 1, Autosomal Dominant 14 0.150
42
LTR008 Lateral Body Wall Defect 10 0.150
43
END072 Endotheliitis 47 0.140
44
NSP010 Nasopharyngeal Teratoma 7 0.127
45
P HYP075 Hypertension 86 0.124
46
GST034 Gastroesophageal Reflux Disease 67 0.122
47
PPT001 Peptic Esophagitis 34 0.122
48
CMB043 Combined Oxidative Phosphorylation Deficiency 9 21 0.119
49
RDC004 Reductional Transverse Limb Defects 10 0.119
50
c OST108 Osteogenesis Imperfecta Type Xiii 40 0.114
51
CRP010 Corpus Callosum Agenesis 35 0.112
52
c OST080 Osteogenesis Imperfecta, Type Ii 51 0.109
53
P STR035 Streptococcal Group a Invasive Disease 14 0.109
54
CRY002 Cryptorchidism 66 0.106
55
BRN056 Bronchopulmonary Dysplasia 47 0.106
56
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 43 0.106
57
MCK002 Meckel's Diverticulum 36 0.106
58
EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 32 0.106
59
CNG383 Congenital Disorder of Glycosylation, Type Iik 29 0.103
60
CMB013 Combined Oxidative Phosphorylation Deficiency 2 25 0.103
61
HYP178 Hyperthermia Induced Defects 10 0.103
62
AZY001 Azygos Continuation of the Inferior Vena Cava 9 0.103
63
DDN006 Duodenitis 62 0.100
64
ESP020 Esophageal Atresia 56 0.100
65
ENT001 Enterocele 42 0.100
66
P OPT051 Opitz Gbbb Syndrome, Type I 35 0.100
67
GST023 Gastric Ulcer 72 0.097
68
APP008 Appendicitis 57 0.097
69
CRD001 Cardiac Tamponade 52 0.097
70
CRN185 Craniofacial Deafness Hand Syndrome 32 0.097
71
DDN011 Duodenal Atresia 31 0.097
72
AXL004 Axial Mesodermal Dysplasia Spectrum 26 0.097
73
ANK002 Ankylosing Spondylitis 75 0.094
74
P HRT021 Heart Block, Progressive, Type Ia 44 0.091
75
P MLR006 Male Reproductive Organ Cancer 23 0.091
76
BRN050 Branchial Arch Defects 10 0.091
77
P OBS005 Obesity 93 0.088
78
AND002 Androgen Insensitivity Syndrome 88 0.088
79
P DDN001 Duodenal Ulcer 68 0.088
80
GST009 Gastroschisis 63 0.088
81
IRN001 Iron Deficiency Anemia 61 0.088
82
IMP002 Imperforate Anus 47 0.088
83
HYP179 Hypertrichosis Congenital Generalized X-Linked 24 0.088
84
c HPT021 Hepatitis 75 0.084
85
ART016 Aortic Aneurysm 62 0.084
86
CRB009 Cerebritis 56 0.084
87
SCN006 Secondary Syphilis 55 0.084
88
THR013 Thoracic Outlet Syndrome 54 0.084
89
DPH006 Diaphragmatic Eventration 29 0.084
90
HNM002 Hinman Syndrome 24 0.084
91
ANK003 Ankle Defects Short Stature 10 0.084
92
PRT036 Peritonitis 78 0.081
93
P ABD003 Abdominal Aortic Aneurysm 71 0.081
94
PPT003 Peptic Ulcer 61 0.081
95
PNM008 Pneumothorax 55 0.081
96
HMN016 Hemangioendothelioma 38 0.081
97
P SPL033 Split-Hand/foot Malformation 6 36 0.081
98
IVM001 Ivemark Syndrome 32 0.081
99
TKY001 Takayasu's Arteritis 72 0.077
100
c THY032 Thyroiditis 67 0.077
101
PSD007 Pseudomyxoma Peritonei 62 0.077
102
c RBN009 Robinow Syndrome, Autosomal Recessive 34 0.077
103
BLD045 Bladder Diverticulum 32 0.077
104
CRK001 Cork-Handlers' Disease 32 0.077
105
CMB025 Combined Oxidative Phosphorylation Deficiency 10 28 0.077
106
TFT003 Tufting Enteropathy 21 0.077
107
P CNG026 Congenital Heart Defect 73 0.073
108
c EHL021 Ehlers-Danlos Syndrome Type Viib 53 0.073
109
c TYP003 Type I Ehlers-Danlos Syndrome 48 0.073
110
PNC045 Pancreatic Agenesis 47 0.073
111
P MBS002 Moebius Syndrome 42 0.073
112
P INF069 Infantile Neuroaxonal Dystrophy 1 32 0.073
113
P SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 32 0.073
114
P ATX002 Ataxia Telangiectasia 93 0.069
115
P NRL016 Neural Tube Defects 67 0.069
116
c NPH012 Nephrotic Syndrome 66 0.069
117
P LPS002 Liposarcoma 61 0.069
118
P ADN016 Adenocarcinoma 60 0.069
119
WLF002 Wolf-Hirschhorn Syndrome 60 0.069
120
OCC006 Occipital Horn Syndrome 57 0.069
121
P INF032 Infertility 56 0.069
122
ALB002 Albinism 50 0.069
123
PYL006 Pyloric Stenosis 49 0.069
124
PLY012 Polyhydramnios 49 0.069
125
GST007 Gastric Dilatation 34 0.069
126
c SPN183 Spontaneous Pneumothorax 31 0.069
127
TRM014 Terminal Transverse Defects of Arm 18 0.069
128
c MCR219 Microphthalmia, Isolated 8 13 0.069
129
ACR045 Acro-Pectoro-Renal Field Defect 13 0.069
130
TRG010 Trigonomacrocephaly Tibial Defect Polydactyly 10 0.069
131
GLL008 Gilles De La Tourette Syndrome 73 0.064
132
P MLG075 Malignant Mesothelioma 69 0.064
133
MRB003 Morbid Obesity 68 0.064
134
FCL009 Focal Dermal Hypoplasia 65 0.064
135
P MLN007 Male Infertility 62 0.064
136
LPM004 Lipoma 60 0.064
137
STS002 Situs Inversus 56 0.064
138
VGN023 Vaginitis 54 0.064
139
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 52 0.064
140
CHL004 Cholelithiasis 51 0.064
141
ESN005 Eosinophilic Gastroenteritis 47 0.064
142
P OMP004 Omphalocele 42 0.064
143
17Q004 17q12 Microdeletion Syndrome 33 0.064
144
EHL012 Ehlers-Danlos Syndrome Dermatosparaxis Type 31 0.064
145
PCH002 Pachygyria 30 0.064
146
c SPL037 Split Hand Foot Malformation 25 0.064
147
DFF002 Diffuse Pulmonary Fibrosis 19 0.064
148
TRS012 Trisomy 22 13 0.064
149
CNG235 Congenital Microgastria 9 0.064
150
TBR010 Tuberculosis 84 0.060
151
P RSP003 Respiratory Failure 70 0.060
152
RLP001 Relapsing Polychondritis 69 0.060
153
c PNC044 Pancreatitis 67 0.060
154
P OST025 Osteogenesis Imperfecta Type Iii 66 0.060
155
DFC004 Deficiency Anemia 66 0.060
156
GSG001 Gas Gangrene 66 0.060
157
P BCK002 Beckwith-Wiedemann Syndrome 65 0.060
158
P EHL033 Ehlers-Danlos Syndrome, Classic Type 62 0.060
159
c EHL001 Ehlers-Danlos Syndrome 61 0.060
160
CRN005 Craniofrontonasal Syndrome 57 0.060
161
PSD009 Pseudohermaphroditism 57 0.060
162
MYC002 Mycobacterium Avium Complex Disease 57 0.060
163
DBL002 Double Outlet Right Ventricle 57 0.060
164
FSC004 Fasciitis 50 0.060
165
NSP002 Nasopharyngitis 49 0.060
166
ARS002 Arsacs 49 0.060
167
c ACR001 Aicardi-Goutieres Syndrome 49 0.060
168
ENT015 Enthesitis-Related Arthritis 48 0.060
169
DVR002 Diverticulitis 45 0.060
170
RPT002 Ruptured Abdominal Aortic Aneurysm 44 0.060
171
46X018 46xy Sex Reversal 6 44 0.060
172
HTR003 Heterotaxy 40 0.060
173
INT071 Intestinal Perforation 39 0.060
174
CYS024 Cystinosis, Ocular Nonnephropathic 37 0.060
175
ERL004 Early Yaws 33 0.060
176
ZP7001 Zap70-Related Severe Combined Immunodeficiency 33 0.060
177
HGH023 High Bone Mass Osteogenesis Imperfecta 31 0.060
178
SCR024 Sacrococcygeal Teratoma 30 0.060
179
DDN009 Duodenal Obstruction 27 0.060
180
RPT003 Ruptured Aortic Aneurysm 27 0.060
181
GRF006 Grfoma 26 0.060
182
c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 25 0.060
183
CRD032 Cardioskeletal Syndrome Kuwaiti Type 25 0.060
184
CMB018 Combined Oxidative Phosphorylation Deficiency 7 25 0.060
185
ULN013 Ulnar/fibula Ray Defect - Brachydactyly 22 0.060
186
c CHR268 Chromosome 8q Duplication 19 0.060
187
GRW022 Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome 18 0.060
188
EHL006 Ehlers–danlos Syndrome 11 0.060
189
c CHR203 Chromosome 16p Duplication 10 0.060
190
CYS001 Cystic Fibrosis 103 0.054
191
MRF001 Marfan Syndrome 92 0.054
192
MNK001 Menkes Disease 81 0.054
193
BRN024 Bronchitis 76 0.054
194
LVR012 Liver Cirrhosis 75 0.054
195
ULC004 Ulcerative Colitis 72 0.054
196
SPN038 Spina Bifida 70 0.054
197
c HYD006 Hydrocephalus 70 0.054
198
BRR003 Barrett's Esophagus 68 0.054
199
P CLN016 Colon Cancer 67 0.054
200
CHR103 Charge Syndrome 65 0.054
201
CHL067 Cholecystitis 62 0.054
202
ACH005 Achalasia 59 0.054
203
WLL003 Williams Syndrome 58 0.054
204
MDS022 Mediastinitis 56 0.054
205
c EPS003 Episodic Ataxia 55 0.054
206
MCR013 Microphthalmia 53 0.054
207
OBS001 Obstructive Jaundice 51 0.054
208
ANN002 Anencephaly 44 0.054
209
INT052 Intestinal Volvulus 42 0.054
210
SYN053 Syndromic Diarrhea 42 0.054
211
NCR007 Necrotizing Fasciitis 41 0.054
212
P ACH009 Achondrogenesis Type Ib 39 0.054
213
SPL006 Splenic Infarction 37 0.054
214
ABD004 Abdominal Tuberculosis 37 0.054
215
SYN036 Syncope 35 0.054
216
MCH011 Meacham Syndrome 29 0.054
217
15Q002 15q24 Microdeletion Syndrome 27 0.054
218
INT011 Interstitial Emphysema 26 0.054
219
EHL039 Ehlers-Danlos Syndrome, Periodontitis Type 26 0.054
220
CLF029 Cleft Palate and Mental Retardation 25 0.054
221
P PLM069 Pulmonary Venous Return Anomaly 19 0.054
222
c EHL016 Ehlers-Danlos Syndrome Type 5 11 0.054
223
HPT023 Hepatocellular Carcinoma 89 0.049
224
CNG034 Congestive Heart Failure 81 0.049
225
RNL002 Renal Agenesis 77 0.049
226
OCL005 Oculocerebrorenal Syndrome 73 0.049
227
ACN002 Acanthosis Nigricans 73 0.049
228
P ANG001 Angelman Syndrome 70 0.049
229
c OST005 Osteogenesis Imperfecta 70 0.049
230
LMY002 Leiomyoma 68 0.049
231
ART019 Aortic Valve Stenosis 68 0.049
232
c LCL006 Localized Scleroderma 68 0.049
233
P PRT013 Portal Hypertension 67 0.049
234
WST001 West Syndrome 64 0.049
235
P LRY019 Laryngitis 62 0.049
236
PHR003 Pharyngitis 62 0.049
237
URT001 Urethritis 62 0.049
238
ART001 Arterial Tortuosity Syndrome 62 0.049
239
P XRD018 Xeroderma Pigmentosum, Group a 61 0.049
240
PTN001 Patent Foramen Ovale 60 0.049
241
INT051 Intussusception 59 0.049
242
MCN001 Mucinous Adenocarcinoma 56 0.049
243
WGR001 Wagr Syndrome 56 0.049
244
ATX019 Ataxia with Vitamin E Deficiency 55 0.049
245
P MLG002 Malignant Peritoneal Mesothelioma 55 0.049
246
PRC012 Pericardial Effusion 54 0.049
247
SPN020 Spondylosis 54 0.049
248
MCR010 Microcephaly 53 0.049
249
P CMP008 Compartment Syndrome 51 0.049
250
ALV006 Alveolar Capillary Dysplasia 50 0.049
251
HYP009 Hypertrophic Pyloric Stenosis 50 0.049
252
HRM002 Hermaphroditism 49 0.049
253
CHY002 Chylomicron Retention Disease 49 0.049
254
HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 45 0.049
255
c MCP012 Mucopolysaccharidosis Ih 45 0.049
256
P SMP004 Simpson-Golabi-Behmel Syndrome Type 1 43 0.049
257
GLD002 Goldberg-Shprintzen Megacolon Syndrome 42 0.049
258
ACT055 Actinomycosis 42 0.049
259
MGS001 Megaesophagus 37 0.049
260
PRX034 Peroxisome Disorders 35 0.049
261
FCT013 Factor V Leiden Thrombophilia 35 0.049
262
c HRM004 Hermansky Pudlak Syndrome 2 33 0.049
263
SCM001 Scimitar Syndrome 31 0.049
264
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 31 0.049
265
CL1004 Col1a1/2-Related Osteogenesis Imperfecta 31 0.049
266
c HYP543 Hypoplastic Left Heart Syndrome 1 29 0.049
267
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 28 0.049
268
c OST040 Osteogenesis Imperfecta Type 6 27 0.049
269
P HYP078 Hypertrophy of Breast 26 0.049
270
NNS006 Non-Suppurative Otitis Media 26 0.049
271
XLN018 X-Linked Creatine Deficiency 24 0.049
272
NNT039 Neonatal Marfan Syndrome 24 0.049
273
c NML009 Nemaline Myopathy 2, Autosomal Recessive 23 0.049
274
UPP006 Upper Limb Defect - Eye and Ear Abnormalities 23 0.049
275
IDP021 Idiopathic Myopathy 22 0.049
276
PLM013 Pulmonary Immaturity 21 0.049
277
c OST109 Osteogenesis Imperfecta, Type Xiv 19 0.049
278
MCR039 Macrophagic Myofasciitis 16 0.049
279
NNS029 Non-Secreting Paraganglioma 16 0.049
280
XLN086 X-Linked Ehlers-Danlos Syndrome 16 0.049
281
ISL075 Isolated Pierre Robin Sequence 15 0.049
282
c EHL019 Ehlers-Danlos Syndrome Type Via 13 0.049
283
PRM033 Paraomphalocele 12 0.049
284
c PLM064 Pulmonary Sequestration 11 0.049
285
CNG062 Congenital Bronchobiliary Fistula 10 0.049
286
P GST019 Gastrointestinal Stromal Tumor 83 0.042
287
P PRM021 Primary Pulmonary Hypertension 82 0.042
288
c DBT009 Diabetes Mellitus 80 0.042
289
TTR001 Tetralogy of Fallot 76 0.042
290
P ADL010 Adult Respiratory Distress Syndrome 71 0.042
291
DNY001 Denys-Drash Syndrome 70 0.042
292
PSY004 Psychotic Disorder 69 0.042
293
c MCP009 Mucopolysaccharidosis Ii 68 0.042
294
MYS005 Myositis 67 0.042
295
P PLM036 Pulmonary Fibrosis 66 0.042
296
MTT005 Matthew-Wood Syndrome 64 0.042
297
CRB037 Cerebral Palsy 64 0.042
298
ACQ007 Acquired Immunodeficiency Syndrome 63 0.042
299
VCT001 Vacterl Association 63 0.042
300
P CNJ013 Conjunctivitis 61 0.042
301
c HPT003 Hepatitis a 60 0.042
302
c AXN002 Axenfeld-Rieger Syndrome 60 0.042
303
P PTT014 Pitt-Hopkins Syndrome 59 0.042
304
ACR008 Acrocallosal Syndrome 59 0.042
305
P CLF002 Cleft Palate 59 0.042
306
EDW001 Edwards Syndrome 59 0.042
307
LYM021 Lymphadenitis 58 0.042
308
c KDN018 Kidney Disease 58 0.042
309
P MYP004 Myopathy 58 0.042
310
ANR004 Anuria 55 0.042
311
P CFF001 Coffin-Siris Syndrome 54 0.042
312
GST045 Gastroenteritis 53 0.042
313
WLL001 Williams-Beuren Syndrome 52 0.042
314
VRC001 Varicocele 51 0.042
315
P EHL009 Ehlers-Danlos Syndrome Type Iv 51 0.042
316
ANK001 Ankylosis 50 0.042
317
SCH016 Schimke Immunoosseous Dysplasia 49 0.042
318
DYS018 Dysostosis 49 0.042
319
UTR039 Uterine Fibroid 49 0.042
320
MTB004 Metabolic Acidosis 49 0.042
321
c HYD002 Hydronephrosis 48 0.042
322
P CRN139 Cornelia De Lange Syndrome 1 47 0.042
323
c TYP002 Type Vi Ehlers-Danlos Syndrome 47 0.042
324
CHL079 Children's Interstitial Lung Disease 46 0.042
325
RCR001 Recurrent Corneal Erosion 44 0.042
326
TTR016 Tetra-Amelia Syndrome 43 0.042
327
HRD028 Hereditary Folate Malabsorption 42 0.042
328
LFT009 Left Ventricular Outflow Tract Obstruction 41 0.042
329
DDN004 Duodenogastric Reflux 40 0.042
330
P SPN121 Spondylocostal Dysostosis 1 39 0.042
331
PRL008 Paralytic Ileus 39 0.042
332
SCH035 Schwartz Jampel Syndrome Type 1 38 0.042
333
P MNN007 Meningocele 37 0.042
334
ADR027 Adrenocortical Insufficiency 34 0.042
335
ADS002 Adie Syndrome 33 0.042
336
SWY002 Swyer Syndrome 32 0.042
337
ESP029 Esophageal Atresia/tracheoesophageal Fistula 31 0.042
338
c CTS019 Cutis Laxa, Ad 29 0.042
339
c PLM071 Pulmonary Surfactant Metabolism Dysfunction 28 0.042
340
DFN039 Deafness-Infertility Syndrome 27 0.042
341
PNM003 Pneumatosis Cystoides Intestinalis 26 0.042
342
TRL003 Toriello Carey Syndrome 25 0.042
343
P ANP018 Anophthalmia Plus Syndrome 25 0.042
344
P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 24 0.042
345
ABD002 Abducens Nerve Disease 23 0.042
346
HRD009 Hereditary Wilms' Tumor 21 0.042
347
TRC038 Tracheobronchomegaly 18 0.042
348
MRG001 Morgagni Cataract 18 0.042
349
AND005 Androgen Insensitivity Syndrome, Mild 18 0.042
350
c TTL001 Total Internal Ophthalmoplegia 17 0.042
351
c ANT010 Anterior Compartment Syndrome 16 0.042
352
c CHR198 Chromosome 15q Deletion 11 0.042
353
VNH001 Von Hippel-Lindau Disease 89 0.034
354
P SMT004 Smith-Lemli-Opitz Syndrome 84 0.034
355
CRH001 Crohn's Disease 83 0.034
356
ESP021 Esophageal Cancer 81 0.034
357
GLN003 Glanzmann's Thrombasthenia 80 0.034
358
P PNM007 Pneumonia 79 0.034
359
INC002 Inclusion Body Myositis 78 0.034
360
P ACT074 Acute Lymphocytic Leukemia 77 0.034
361
THY028 Thyroid Cancer 76 0.034
362
ABT001 Abetalipoproteinemia 73 0.034
363
PLL001 Pallister-Hall Syndrome 71 0.034
364
ANR002 Aniridia 71 0.034
365
c MCP001 Mucopolysaccharidosis Iii 70 0.034
366
P SYS005 Systemic Scleroderma 69 0.034
367
P HMN010 Hemangioma 68 0.034
368
c PRM002 Primary Hyperoxaluria 68 0.034
369
P GST044 Gastritis 68 0.034
370
PTR006 Peters Plus Syndrome 67 0.034
371
P PLY014 Polycystic Kidney Disease 67 0.034
372
ACR015 Acrocephalosyndactylia 67 0.034
373
BLR001 Biliary Atresia 67 0.034
374
P DGR001 Digeorge Syndrome 67 0.034
375
c CRN037 Craniosynostosis 67 0.034
376
DSS009 Disseminated Intravascular Coagulation 66 0.034
377
PTN002 Patent Ductus Arteriosus 65 0.034
378
SLY001 Sly Syndrome 65 0.034
379
ARS001 Aarskog-Scott Syndrome 65 0.034
380
ISC004 Ischemia 64 0.034
381
DNH001 Donohue Syndrome 64 0.034
382
TTN003 Tetanus 63 0.034
383
AMN001 Amenorrhea 63 0.034
384
P CTS001 Cutis Laxa 63 0.034
385
P LMY004 Leiomyosarcoma 62 0.034
386
SMT015 Smith Magenis Syndrome 62 0.034
387
P WVR001 Weaver Syndrome 62 0.034
388
RTN023 Retinitis 61 0.034
389
RTN017 Retinal Detachment 60 0.034
390
P CLL015 Collagen Disease 59 0.034
391
MCK005 Mckusick-Kaufman Syndrome 59 0.034
392
P HYP040 Hypospadias 59 0.034
393
SNG010 Single Median Maxillary Central Incisor 57 0.034
394
P SHR002 Short Stature 57 0.034
395
SNS001 Sensorineural Hearing Loss 56 0.034
396
P DND001 Dandy-Walker Syndrome 56 0.034
397
P HYP055 Hypoplastic Left Heart Syndrome 56 0.034
398
CDL003 Caudal Regression Syndrome 55 0.034
399
CNS004 Constipation 55 0.034
400
GRG001 Greig Cephalopolysyndactyly Syndrome 55 0.034
401
c DST002 Distal Arthrogryposis 55 0.034
402
LPC002 Lip Cancer 55 0.034
403
c NNT009 Neonatal Diabetes Mellitus 54 0.034
404
P THR090 Thrombocythemia 1 54 0.034
405
P HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 54 0.034
406
ASP002 Aspartylglucosaminuria 53 0.034
407
CYS014 Cystadenocarcinoma 52 0.034
408
URC002 Urea Cycle Disorder 51 0.034
409
c SPN016 Spondylocostal Dysostosis 51 0.034
410
BLD044 Bladder Disease 51 0.034
411
c CRN015 Cornelia De Lange Syndrome 51 0.034
412
ADN014 Adenomatoid Tumor 50 0.034
413
P OVR046 Ovarian Cyst 50 0.034
414
OLG003 Oligohydramnios 50 0.034
415
IRN002 Iron Metabolism Disease 50 0.034
416
PYD002 Pyoderma 49 0.034
417
P PND001 Pain Disorder 49 0.034
418
P KLP003 Klippel-Feil Syndrome 49 0.034
419
ORC001 Orchitis 49 0.034
420
SPR016 Spermatic Cord Torsion 49 0.034
421
P NML001 Nemaline Myopathy 49 0.034
422
RDC002 Radiculopathy 48 0.034
423
PRT019 Protein-Losing Enteropathy 48 0.034
424
SMN007 Seminoma 48 0.034
425
MLK003 Melkersson-Rosenthal Syndrome 48 0.034
426
P CNG007 Congenital Adrenal Insufficiency 47 0.034
427
KRT002 Keratomalacia 47 0.034
428
P PRM100 Primary Spontaneous Pneumothorax 46 0.034
429
c PLY026 Polycystic Kidney Disease, Autosomal Dominant 46 0.034
430
P MLT055 Multiple Pterygium Syndrome Lethal Type 46 0.034
431
P ATS008 Autosomal Dominant Disease 46 0.034
432
P ATX010 Ataxia Neuropathy Spectrum 44 0.034
433
c ATR001 Atrioventricular Septal Defect 44 0.034
434
P AZS001 Azoospermia 44 0.034
435
AND003 Andersen-Tawil Syndrome 43 0.034
436
HYP266 Hypoxia 43 0.034
437
P KLF001 Kleefstra Syndrome 42 0.034
438
BRS090 Breast Reconstruction 42 0.034
439
P SLD005 Sialidosis Type I 42 0.034
440
P RBN011 Robinow Syndrome, Autosomal Dominant 40 0.034
441
ESP023 Esophageal Disease 40 0.034
442
MCR103 Microtia 39 0.034
443
HPY002 H. Pylori Infection 39 0.034
444
P 2Q3002 2q37 Microdeletion Syndrome 39 0.034
445
IPX001 Ipex Syndrome 39 0.034
446
MLT054 Multiple Pterygium Syndrome Escobar Type 38 0.034
447
c ACH008 Achondrogenesis Type Ia 38 0.034
448
HMG020 Hmg Coa Lyase Deficiency 38 0.034
449
c SMP003 Simpson-Golabi-Behmel Syndrome 37 0.034
450
P ATR010 Atrial Heart Septal Defect 37 0.034
451
c TRT010 Teratoma 37 0.034
452
PLR005 Pleuropneumonia 37 0.034
453
c RSM001 Rasmussen Encephalitis 37 0.034
454
EMN001 Emanuel Syndrome 36 0.034
455
TRN044 Transposition of the Great Arteries 36 0.034
456
MNT147 Mental Retardation 35 0.034
457
c FML087 Familial Renal Cell Carcinoma 34 0.034
458
P CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 33 0.034
459
c CTS009 Cutis Laxa, Autosomal Recessive Type 2a 33 0.034
460
EHL010 Ehlers-Danlos Syndrome Arthrochalasia Type 33 0.034
461
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 32 0.034
462
DFC001 Defective Apolipoprotein B-100 32 0.034
463
P SLP004 Salpingo-Oophoritis 31 0.034
464
P DST041 Distal Monosomy 3p 31 0.034
465
TRC040 Tracheoesophageal Fistula 30 0.034
466
APP009 Appendix Adenocarcinoma 30 0.034
467
IMR001 Imerslund-Grasbeck Syndrome 29 0.034
468
P CHR269 Chromosome 9p Deletion 29 0.034
469
LTR009 Lateral Meningocele Syndrome 29 0.034
470
DYS036 Dysequilibrium Syndrome 28 0.034
471
DYS073 Dysphagia 28 0.034
472
c OST036 Osteogenesis Imperfecta Type 2a 28 0.034
473
CLK001 C-Like Syndrome 28 0.034
474
48X003 48,xxyy Syndrome 27 0.034
475
EXS007 Exstrophy of the Bladder 27 0.034
476
JNT001 Joint Laxity, Familial 27 0.034
477
c OST043 Osteogenesis Imperfecta Type 9 27 0.034
478
c CHR229 Chromosome 20p Duplication 25 0.034
479
DND007 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 25 0.034
480
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 25 0.034
481
MLT104 Multiple Benign Circumferential Skin Creases on Limbs 24 0.034
482
HRT016 Heart Defect, Tongue Hamartoma and Polysyndactyly 24 0.034
483
CRN224 Craniofaciofrontodigital Syndrome 23 0.034
484
PPT002 Peptic Ulcer Perforation 23 0.034
485
P HYP527 Hypomagnesemia 5, Renal, with Ocular Involvement 23 0.034
486
MGD001 Megaduodenum and/or Megacystis 22 0.034
487
P KRN003 Kernicterus Due to Isoimmunization 21 0.034
488
PL2001 Pla2g6-Associated Neurodegeneration 21 0.034
489
c BNG076 Benign Exophthalmos Syndrome 21 0.034
490
INN003 Iniencephaly 21 0.034
491
c HTR007 Heterotopia, Periventricular, Ed Variant 20 0.034
492
MYS010 Myostatin-Related Muscle Hypertrophy 20 0.034
493
LWR007 Lowry Maclean Syndrome 20 0.034
494
DYS052 Dyssegmental Dysplasia Silverman-Handmaker Type 19 0.034
495
SCR025 Scarf Syndrome 19 0.034
496
SCR020 Sacral Defect with Anterior Meningocele 19 0.034
497
c KLF003 Kleefstra Syndrome Due to 9q34 Microdeletion 18 0.034
498
HSB001 His Bundle Tachycardia 18 0.034
499
48X002 48,xxxy Syndrome 17 0.034
500
LMB013 Limb Reduction Defect 17 0.034
501
SPL038 Splenogonadal Fusion - Limb Defects - Micrognathia 16 0.034
502
CPR003 Cooper-Jabs Syndrome 16 0.034
503
DRM037 Dermato-Cardio-Skeletal Syndrome, Borrone Type 16 0.034
504
PRX069 Proximal 16p11.2 Microdeletion Syndrome 15 0.034
505
ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 14 0.034
506
DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 14 0.034
507
P ISC010 Isochromosome Yp 14 0.034
508
CRT057 Critical Congenital Heart Disease 14 0.034
509
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 13 0.034
510
RDC003 Red Cell Phospholipid Defect with Hemolysis 12 0.034
511
ANR019 Anorectal Atresia 10 0.034
512
OVR074 Overgrowth Radial Ray Defect Arthrogryposis 10 0.034
513
MCK004 Meckel's Diverticulitis 9 0.034
514
GSB001 Gas Bloat Syndrome 2 0.034
515
P ALZ001 Alzheimer's Disease 103 0.024
516
P NRF002 Neurofibromatosis 100 0.024
517
P AMY001 Amyotrophic Lateral Sclerosis 100 0.024
518
FBR012 Fabry Disease 88 0.024
519
P CSH001 Cushing's Syndrome 83 0.024
520
CST001 Costello Syndrome 79 0.024
521
P FRG001 Fragile X Syndrome 75 0.024
522
c CNG006 Congenital Hypothyroidism 72 0.024
523
c MCP005 Mucopolysaccharidosis Vi 71 0.024
524
P NRB001 Neuroblastoma 71 0.024
525
LKC001 Leukocyte Adhesion Deficiency 70 0.024
526
P END044 Endometriosis 69 0.024
527
IDP003 Idiopathic Pulmonary Fibrosis 69 0.024
528
P CNV004 Canavan Disease 68 0.024
529
PLM033 Pulmonary Embolism 68 0.024
530
P MCP004 Mucopolysaccharidosis Iv 68 0.024
531
KLN001 Klinefelter's Syndrome 67 0.024
532
P MYT006 Myotonic Dystrophy Type 1 67 0.024
533
c XRD001 Xeroderma Pigmentosum 67 0.024
534
STT001 Status Epilepticus 66 0.024
535
LDD001 Ladd Syndrome 66 0.024
536
GLD001 Goldenhar Syndrome 65 0.024
537
ART021 Arteriosclerosis 65 0.024
538
MXD005 Mixed Connective Tissue Disease 65 0.024
539
c HPT016 Hepatitis B 65 0.024
540
c OST026 Osteogenesis Imperfecta Type I 64 0.024
541
NRN002 Neuronitis 64 0.024
542
PNT028 Pantothenate Kinase-Associated Neurodegeneration 64 0.024
543
XLN001 X-Linked Ichthyosis 64 0.024
544
CHL068 Cholestasis 63 0.024
545
c LRY016 Laryngeal Carcinoma 63 0.024
546
TYP007 Typhoid Fever 63 0.024
547
c MCL015 Mucolipidosis Ii 62 0.024
548
PRS047 Prostatitis 62 0.024
549
DWN001 Down Syndrome 62 0.024
550
BRN029 Brain Disease 62 0.024
551
P MLS001 Melas Syndrome 61 0.024
552
P INT068 Intestinal Disease 61 0.024
553
P NRV007 Nervous System Disease 61 0.024
554
SQM006 Squamous Cell Carcinoma 61 0.024
555
THR009 Thrombocytopenia-Absent Radius Syndrome 60 0.024
556
MCK007 Muckle-Wells Syndrome 60 0.024
557
CLR003 Clear Cell Adenocarcinoma 60 0.024
558
PLM034 Pulmonary Emphysema 60 0.024
559
NRF007 Neurofibroma 60 0.024
560
c CNT035 Central Nervous System Disease 60 0.024
561
FCL008 Focal Glomerulosclerosis 60 0.024
562
MYX005 Myxoid Liposarcoma 59 0.024
563
EPD016 Epidermolysis Bullosa 59 0.024
564
OST017 Osteomyelitis 59 0.024
565
c GLL020 Gallbladder Disease 59 0.024
566
PRM027 Primitive Neuroectodermal Tumor 59 0.024
567
CMP002 Campylobacteriosis 59 0.024
568
PLY023 Polycystic Liver Disease 59 0.024
569
P DWR001 Dwarfism 58 0.024
570
LMT001 Limited Scleroderma 58 0.024
571
P FTL006 Fetal Alcohol Spectrum Disorder 58 0.024
572
LRN003 Learning Disability 58 0.024
573
RLY001 Riley-Day Syndrome 58 0.024
574
BBS001 Babesiosis 58 0.024
575
INT067 Interstitial Nephritis 57 0.024
576
P DBT005 Diabetes Insipidus 57 0.024
577
ANR008 Aneurysm Disease 57 0.024
578
NRN001 Neuroendocrine Carcinoma 57 0.024
579
EPL002 Epilepsy Syndrome 57 0.024
580
CNN005 Connective Tissue Disease 57 0.024
581
ANT009 Antithrombin Iii Deficiency 57 0.024
582
HJD001 Hajdu-Cheney Syndrome 57 0.024
583
LRY018 Laryngeal Squamous Cell Carcinoma 57 0.024
584
LYM022 Lymphangioma 57 0.024
585
PYD001 Pyoderma Gangrenosum 57 0.024
586
PRT039 Proteinuria 57 0.024
587
P PLM006 Pulmonary Alveolar Proteinosis 56 0.024
588
BRS002 Beare-Stevenson Cutis Gyrata Syndrome 56 0.024
589
NRG002 Neurogenic Bladder 56 0.024
590
HYP063 Hypersplenism 56 0.024
591
c THR003 Thoracic Aortic Aneurysm 56 0.024
592
GST027 Gastric Lymphoma 56 0.024
593
P SYR001 Syringomyelia 55 0.024
594
SHR001 Short Bowel Syndrome 55 0.024
595
NRL005 Neurilemmoma 55 0.024
596
P MTR005 Mitral Valve Prolapse 55 0.024
597
P PLY006 Polydactyly 54 0.024
598
SPN027 Spinal Stenosis 54 0.024
599
RHB003 Rhabdomyosarcoma 54 0.024
600
c DNT011 Dentinogenesis Imperfecta 54 0.024
601
HMP005 Hemiplegia 54 0.024
602
ART017 Aortic Disease 54 0.024
603
PLY041 Polymyositis 54 0.024
604
DFF003 Diffuse Scleroderma 54 0.024
605
c LRG001 Large Cell Carcinoma 53 0.024
606
ACR012 Aicardi Syndrome 53 0.024
607
P EPS020 Episodic Ataxia Type 1 53 0.024
608
CYS002 Cystic Lymphangioma 53 0.024
609
P STC005 Stickler Syndrome Type 1 53 0.024
610
YLL001 Yellow Nail Syndrome 52 0.024
611
PRV003 Perivascular Epithelioid Cell Tumor 52 0.024
612
ADL002 Adult Syndrome 52 0.024
613
P ALP014 Alpha-Thalassemia/mental Retardation Syndrome 52 0.024
614
OST044 Osteoglophonic Dysplasia 52 0.024
615
P CRV039 Cervicitis 52 0.024
616
P FNC044 Fanconi Anemia, Complementation Group C 52 0.024
617
PRM003 Premature Ejaculation 52 0.024
618
P HYP097 Hyperekplexia 52 0.024
619
MCN007 Meconium Aspiration Syndrome 52 0.024
620
ANG054 Angina Pectoris 52 0.024
621
HMS001 Hemosiderosis 52 0.024
622
c SCK002 Sick Sinus Syndrome 52 0.024
623
BLC003 Bloch-Sulzberger Syndrome 52 0.024
624
c MCK006 Meckel Syndrome 51 0.024
625
NRT004 Neuritis 51 0.024
626
c LSS002 Lissencephaly 51 0.024
627
CYS009 Cystadenoma 51 0.024
628
c OST038 Osteogenesis Imperfecta Type 4 50 0.024
629
HYP005 Hypokalemia 50 0.024
630
PTS001 Patau Syndrome 50 0.024
631
HMH002 Hemihypertrophy 50 0.024
632
CNT091 Central Hypoventilation Syndrome, Congenital, with or Without Hirschsprung Disease 49 0.024
633
URT010 Ureteral Obstruction 49 0.024
634
MYC005 Myocardial Stunning 49 0.024
635
P OCL013 Oculodentodigital Dysplasia 49 0.024
636
DXT001 Dextrocardia 48 0.024
637
1P3001 1p36 Deletion Syndrome 48 0.024
638
JCB001 Jacobsen Syndrome 48 0.024
639
P CYS017 Cystic Teratoma 48 0.024
640
CCH002 Coach Syndrome 48 0.024
641
CLN015 Colon Adenocarcinoma 48 0.024
642
ULN003 Ulnar-Mammary Syndrome 48 0.024
643
c SCK004 Seckel Syndrome 47 0.024
644
P PLM030 Pleomorphic Rhabdomyosarcoma 47 0.024
645
CTY001 Cat Eye Syndrome 47 0.024
646
JBS001 Job's Syndrome 47 0.024
647
c BNG032 Benign Mesothelioma 46 0.024
648
CRD002 Cri-Du-Chat Syndrome 46 0.024
649
NNT012 Neonatal Jaundice 46 0.024
650
MCN008 Mucinous Cystadenocarcinoma 46 0.024
651
CRN025 Corneal Dystrophy 46 0.024
652
MCP016 Mecp2 Duplication Syndrome 45 0.024
653
c STS001 Sotos Syndrome 45 0.024
654
P PRG017 Paraganglioma and Gastric Stromal Sarcoma 44 0.024
655
PLR007 Pleural Empyema 44 0.024
656
P FRS003 Fraser Syndrome 44 0.024
657
CRN188 Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis 43 0.024
658
P GM1003 Gm1 Gangliosidosis Type 3 43 0.024
659
c INT060 Intestinal Atresia 43 0.024
660
P EPL025 Epileptic Encephalopathy, Early Infantile, 2 43 0.024
661
P MCL046 Mucolipidosis Iii Alpha/beta 43 0.024
662
LYM011 Lymphogranuloma Venereum 43 0.024
663
GNT031 Genitopatellar Syndrome 42 0.024
664
PHL006 Phelan-Mcdermid Syndrome 42 0.024
665
RCT011 Rectal Prolapse 42 0.024
666
SKL007 Skeletal Muscle Regeneration 42 0.024
667
FRM007 Freeman Sheldon Syndrome 42 0.024
668
PLN006 Poland Syndrome 42 0.024
669
RYN003 Reynolds Syndrome 41 0.024
670
c WLM002 Wilms Tumor 41 0.024
671
BLP004 Blepharophimosis 41 0.024
672
RVL002 Ruvalcaba Syndrome 41 0.024
673
HYP143 Hypomyelination and Congenital Cataract 41 0.024
674
P TRC005 Tracheal Stenosis 40 0.024
675
MTR010 Mature Teratoma 40 0.024
676
HYP542 Hypersensitivity Syndrome, Carbamazepine-Induced 40 0.024
677
HYP030 Hypoactive Sexual Desire Disorder 39 0.024
678
BLR002 Bile Reflux 39 0.024
679
P CLR001 Clear Cell Acanthoma 39 0.024
680
GST020 Gastric Antral Vascular Ectasia 38 0.024
681
NCL003 Nicolaides Baraitser Syndrome 38 0.024
682
SCH024 Schinzel Giedion Syndrome 38 0.024
683
DST056 Distal 22q11.2 Microdeletion Syndrome 37 0.024
684
c BLN003 Blindness 37 0.024
685
CNT056 Cantu Syndrome 37 0.024
686
ACL001 Acalculous Cholecystitis 37 0.024
687
P RPS001 Rapsn-Related Congenital Myasthenic Syndrome 37 0.024
688
P KBK002 Kabuki Syndrome 1 37 0.024
689
TTH001 Tooth Ankylosis 37 0.024
690
c 46X001 46 Xy Gonadal Dysgenesis 37 0.024
691
PHM001 Phimosis 36 0.024
692
SPR007 Superior Mesenteric Artery Syndrome 36 0.024
693
FTL007 Fetal Hydantoin Syndrome 36 0.024
694
P SCH023 Schindler Disease, Type 1 36 0.024
695
c 3Q2003 3q29 Microdeletion Syndrome 36 0.024
696
INT046 Intestinal Tuberculosis 36 0.024
697
P PRS068 Persistent Mullerian Duct Syndrome, Type Ii 36 0.024
698
OVR059 Ovary Adenocarcinoma 36 0.024
699
c JBR016 Joubert Syndrome 10 36 0.024
700
GRD005 Geroderma Osteodysplasticum 36 0.024
701
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 35 0.024
702
P ANP022 Anophthalmia/microphthalmia 35 0.024
703
P INF131 Infant Acute Respiratory Distress Syndrome 35 0.024
704
c MNN025 Mannosidosis, Alpha-, Types I and Ii 35 0.024
705
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 35 0.024
706
RTR007 Retroperitoneal Leiomyosarcoma 34 0.024
707
P CNG151 Congenital Hypothyroidism, Nongoitrous 1 34 0.024
708
MTR001 Mature Cataract 34 0.024
709
CRN113 Craniosynostosis, Syndromic 34 0.024
710
17Q002 17q23.1q23.2 Microdeletion Syndrome 34 0.024
711
GPS001 Gapo Syndrome 33 0.024
712
PRD015 Proud Levine Carpenter Syndrome 33 0.024
713
CHR174 Christianson Syndrome 33 0.024
714
MYH012 Myhre Syndrome 33 0.024
715
LKM059 Leukemia, Megakaryoblastic, with or Without Down Syndrome, Somatic 33 0.024
716
NPH017 Nephrosis 33 0.024
717
MNT003 Mental Retardation in Cri-Du-Chat Syndrome 33 0.024
718
ILS001 Ileus 33 0.024
719
WRN004 Wrinkly Skin Syndrome 33 0.024
720
MGC004 Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 32 0.024
721
c OST039 Osteogenesis Imperfecta Type 5 32 0.024
722
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 32 0.024
723
MSM004 Mesomelia-Synostoses Syndrome 32 0.024
724
TYL002 Tylosis with Esophageal Cancer 32 0.024
725
CRN088 Craniorachischisis 32 0.024
726
PRR010 Pierre Robin Sequence 32 0.024
727
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 31 0.024
728
HYP265 Hypotonia 30 0.024
729
FLC001 Folic Acid Deficiency Anemia 30 0.024
730
APL022 Aplasia Cutis Congenita, Reticulolinear, with Mmicrocephaly, Facial Dysmorphism and Other Congenital Anomalies 30 0.024
731
EPD018 Epididymo-Orchitis 30 0.024
732
ESN020 Eosinophilic Granulomatosis with Polyangiitis 30 0.024
733
P OMD001 Omodysplasia 1 30 0.024
734
SRF006 Surfactant Dysfunction 30 0.024
735
NNT004 Neonatal Respiratory Failure 30 0.024
736
RNL041 Renal Hamartomas Nephroblastomatosis and Fetal Gigantism 30 0.024
737
P SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 29 0.024
738
DXT002 Dextrocardia with Situs Inversus 29 0.024
739
SPS057 Spasticity 29 0.024
740
RTR009 Retroperitoneal Cancer 29 0.024
741
c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 29 0.024
742
ABL001 Ablepharon Macrostomia Syndrome 29 0.024
743
THY043 Thymic Hyperplasia 28 0.024
744
EXN003 Exencephaly 28 0.024
745
17P002 17p13.3 Microduplication Syndrome 28 0.024
746
URT016 Urethral Diverticulum 28 0.024
747
NTR005 Nutritional Deficiency Disease 28 0.024
748
c OPT048 Opitz-Gbbb Syndrome 27 0.024
749
ART007 Aorta Atresia 27 0.024
750
OVR047 Ovarian Cystadenocarcinoma 27 0.024
751
SKT001 Sakati Syndrome 26 0.024
752
FMR006 Femoral Facial Syndrome 26 0.024
753
WTS001 Watson Syndrome 26 0.024
754
OCL034 Oculocerebrocutaneous Syndrome 26 0.024
755
c 2Q3005 2q31.1 Microdeletion Syndrome 26 0.024
756
ALP058 Alport Syndrome - Intellectual Deficit - Midface Hypoplasia - Elliptocytosis 25 0.024
757
CNG122 Congenital Pulmonary Lymphangiectasia 25 0.024
758
LNZ002 Lenz Majewski Hyperostotic Dwarfism 25 0.024
759
OCL033 Oculocerebral Syndrome with Hypopigmentation 25 0.024
760
URT011 Urethral Calculus 24 0.024
761
CYS015 Cystadenofibroma 24 0.024
762
DYS011 Dyskinesia of Esophagus 24 0.024
763
ASC004 Ascending Colon Cancer 24 0.024
764
VTR012 Vater Association with Macrocephaly and Ventriculomegaly 24 0.024
765
PNT005 Pentalogy of Cantrell 24 0.024
766
ART087 Arthrogryposis with Oculomotor Limitation and Electroretinal Anomalies 24 0.024
767
TRN003 Transverse Colon Cancer 24 0.024
768
ACR029 Acrofacial Dysostosis Catania Type 24 0.024
769
SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 24 0.024
770
GST064 Gastric Outlet Obstruction 24 0.024
771
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 24 0.024
772
URN009 Urinary System Disease 23 0.024
773
DYS013 Dysbaric Osteonecrosis 23 0.024
774
HYP264 Hypertonia 23 0.024
775
HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 23 0.024
776
14Q001 14q12 Microdeletion Syndrome 23 0.024
777
PRG079 Progeria - Short Stature - Pigmented Nevi 23 0.024
778
TCK002 Tick Paralysis 23 0.024
779
3MC002 3mc Syndrome 1 22 0.024
780
PLY031 Polydactyly Myopia Syndrome 22 0.024
781
P 49X002 49,xxxxy Syndrome 22 0.024
782
BRC019 Brachycephalofrontonasal Dysplasia 22 0.024
783
GRL002 Gorlin Chaudhry Moss Syndrome 21 0.024
784
c DST037 Distal Monosomy 9p 21 0.024
785
CRB076 Cerebro Facio Thoracic Dysplasia 21 0.024
786
MSN003 Mesenteric Vascular Occlusion 21 0.024
787
P MNT109 Mental Retardation, X-Linked, Syndromic 15 21 0.024
788
CRN190 Craniosynostosis - Fibular Aplasia 21 0.024
789
SCH055 Schilbach-Rott Syndrome 21 0.024
790
HYP343 Hypothryoidism, Congenital, Nongoitrous 4 21 0.024
791
SPL022 Split Hand Urinary Anomalies Spina Bifida 21 0.024
792
2P1002 2p15p16.1 Microdeletion Syndrome 21 0.024
793
WLS004 Wilson-Turner Syndrome 20 0.024
794
P PRV005 Perivascular Tumor 20 0.024
795
17P001 17p11.2 Microduplication Syndrome 20 0.024
796
MCR073 Microgastria Limb Reduction Defect 19 0.024
797
c CHR224 Chromosome 1q Duplication 19 0.024
798
c CHR266 Chromosome 8p23.1 Deletion 19 0.024
799
MNV001 Manouvrier Syndrome 19 0.024
800
ANR012 Aniridia Absent Patella 19 0.024
801
INT090 Intellectual Deficit Buenos-Aires Type 19 0.024
802
ACH018 Achondroplasia and Severe Combined Immunodeficiency 19 0.024
803
GNT017 Genito Palato Cardiac Syndrome 18 0.024
804
INT172 Intellectual Deficit, Wolff Type 18 0.024
805
ART046 Arthrogryposis Multiplex Congenita Neurogenic Type 18 0.024
806
BRD023 Bird Headed Dwarfism Montreal Type 18 0.024
807
HLP015 Holoprosencephaly - Postaxial Polydactyly 18 0.024
808
TBB001 Tibia Absent Polydactyly Arachnoid Cyst 18 0.024
809
BND007 Bone Dysplasia Lethal Holmgren Type 18 0.024
810
P CHR225 Chromosome 1q21.1 Duplication Syndrome 18 0.024
811
16P006 16p11.2p12.2 Microdeletion Syndrome 18 0.024
812
BLP009 Blepharonasofacial Malformation Syndrome 18 0.024
813
SHP004 Shprintzen Omphalocele Syndrome 18 0.024
814
ACR069 Acro-Renal-Mandibular Syndrome 18 0.024
815
BRC027 Brachydactyly Mononen Type 17 0.024
816
TLH001 Tel Hashomer Camptodactyly Syndrome 17 0.024
817
INT177 Intellectual Deficit, X-Linked - Dysmorphism - Cerebral Atrophy 17 0.024
818
FLT008 Flat Face - Microstomia - Ear Anomaly 17 0.024
819
GND006 Gonadal Dysgenesis Xy Type Associated Anomalies 16 0.024
820
PRV001 Parovarian Cyst 16 0.024
821
c CHR250 Chromosome 4q Duplication 16 0.024
822
c BNG001 Benign Peritoneal Mesothelioma 16 0.024
823
c MNS011 Monosomy 9q22.3 16 0.024
824
PFF004 Pfeiffer Palm Teller Syndrome 16 0.024
825
PRG024 Progeroid Syndrome Petty Type 16 0.024
826
SYM004 Say Meyer Syndrome 16 0.024
827
SCH025 Schisis Association 16 0.024
828
CRB056 Cerebellar Ataxia Ectodermal Dysplasia 16 0.024
829
P ENC032 Encephalopathy Due to Beta-Mercaptolactate-Cysteine Disulfiduria 16 0.024
830
RNL040 Renal Genital Middle Ear Anomalies 16 0.024
831
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 15 0.024
832
RTR005 Retroperitoneal Lymphoma 15 0.024
833
3MC001 3mc Syndrome 2 15 0.024
834
SVR009 Seaver Cassidy Syndrome 15 0.024
835
ECT053 Ectodermal Dysplasia - Intellectual Deficit - Central Nervous System Malformation 15 0.024
836
INT194 Intellectual Deficit, X-Linked, Armfield Type 15 0.024
837
CNG240 Congenital Unilateral Hypoplasia of Depressor Anguli Oris 15 0.024
838
CLL022 Collins Pope Syndrome 15 0.024
839
MLL014 Mullerian Derivatives - Lymphangiectasia - Polydactyly 15 0.024
840
CRN083 Craniofacial Dyssynostosis 15 0.024
841
NND005 Non-Distal Trisomy 13q 15 0.024
842
CRN193 Corneal Anesthesia - Deafness - Intellectual Deficit 15 0.024
843
STR034 Stratton-Garcia-Young Syndrome 15 0.024
844
HYP571 Hyperthyroxinemia Dystransthyretinemic Euthyroidal 15 0.024
845
c DST045 Distal Trisomy 6p 15 0.024
846
ESN014 Eosinophilic Enteropathy 15 0.024
847
HRS009 Hirschsprung Nail Hypoplasia Dysmorphism 15 0.024
848
GRX001 Grix Blankenship Peterson Syndrome 14 0.024
849
SBR006 Subaortic Stenosis Short Stature Syndrome 14 0.024
850
INT157 Intellectual Deficit, X-Linked - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures 14 0.024
851
FRS008 Froster-Huch Syndrome 14 0.024
852
ARC012 Arachnodactyly - Abnormal Ossification - Intellectual Deficit 14 0.024
853
INT181 Intellectual Deficit - Polydactyly - Uncombable Hair 14 0.024
854
c SVR048 Severe Canavan Disease 14 0.024
855
RDG003 Rudiger Syndrome 14 0.024
856
WLM004 Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome 14 0.024
857
CLF019 Cleft Palate Short Stature Vertebral Anomalies 14 0.024
858
THY057 Thyroid Hormonogenesis Defect I 14 0.024
859
c DST038 Distal Monosomy 7q36 14 0.024
860
MRL004 Morillo-Cucci-Passarge Syndrome 14 0.024
861
DSH001 Daish Hardman Lamont Syndrome 14 0.024
862
INT158 Intellectual Deficit - Hypoplastic Corpus Callosum - Preauricular Tag 14 0.024
863
ACR070 Acro-Pectoro-Renal Dysplasia 14 0.024
864
CND009 Conductive Deafness with Malformed External Ear 14 0.024
865
HYP478 Hyposmia - Nasal and Ocular Hypoplasia - Hypogonadotropic Hypogonadism 14 0.024
866
RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 14 0.024
867
SPR040 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 13 0.024
868
c 6P2001 6p22 Microdeletion Syndrome 13 0.024
869
DST071 Distal Monosomy 19p13.3 13 0.024
870
MSC083 Muscular Pseudohypertrophy - Hypothyroidism 13 0.024
871
16P003 16p13.11 Microdeletion Syndrome 13 0.024
872
NTL002 Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus 13 0.024
873
THK001 Thakker-Donnai Syndrome 13 0.024
874
15Q003 15q14 Microdeletion Syndrome 12 0.024
875
c CNG339 Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 12 0.024
876
c CNG031 Congenital Nervous System Abnormality 12 0.024
877
FTL024 Fetal Minoxidil Syndrome 12 0.024
878
MYC060 Mycophenolate Mofetil Embryopathy 12 0.024
879
ARR032 Arrhinia - Choanal Atresia - Microphthalmia 12 0.024
880
c CRP022 Carpenter Syndrome 2 12 0.024
881
INT166 Intellectual Deficit - Hypotonia - Skin Hyperpigmentation 11 0.024
882
INT165 Intellectual Deficit, X-Linked - Short Stature - Obesity 11 0.024
883
c 7Q1001 7q11.23 Microduplication Syndrome 11 0.024
884
INT168 Intellectual Deficit-Unusual Facies, Davis-Lafer Type 11 0.024
885
CTS024 Cutis Laxa-Marfanoid Syndrome 11 0.024
886
c 8Q1001 8q12 Microduplication Syndrome 10 0.024
887
INT212 Intellectual Deficit, X-Linked, Pai Type 10 0.024
888
PLM045 Palmer Pagon Syndrome 10 0.024
889
SND005 Sandifer Syndrome 10 0.024
890
GST011 Gastric Liposarcoma 9 0.024
891
KRS001 Krauss Herman Holmes Syndrome 9 0.024
892
LPM001 Lipoma of Spermatic Cord 8 0.024
893
PRC041 Pericardial and Diaphragmatic Defect 7 0.024
894
CNG131 Congenital Unilateral Pulmonary Hypoplasia 6 0.024